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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
5803904
C
T
intron_variant
MODIFIER
EVC
c.2449+83C>T
chr4
5803903
A
G
intron_variant
MODIFIER
EVC
c.2449+82A>G
chr4
5803829
AC
A
intron_variant
MODIFIER
EVC
c.2449+9delC
chr4
5803669
T
C
splice_region_variant&intron_variant
LOW
EVC
c.2305-8T>C
chr4
5803633
C
T
intron_variant
MODIFIER
EVC
c.2305-44C>T
chr4
5800121
CACAGACACCTA
C
intron_variant
MODIFIER
EVC
c.2098-191_2098-181delACAGACACCTA
chr4
5799077
G
A
intron_variant
MODIFIER
EVC
c.2097+118G>A
chr4
5795412
C
T
synonymous_variant
LOW
EVC
c.1854C>T
chr4
5785442
G
A
missense_variant
MODERATE
EVC
c.1727G>A
chr4
5759860
A
G
intron_variant
MODIFIER
EVC
c.1563+1771A>G
chr4
5757944
A
C
intron_variant
MODIFIER
EVC
c.1465-47A>C
chr4
5757932
GA
G
intron_variant
MODIFIER
EVC
c.1465-58delA
chr4
5755542
C
A
missense_variant
MODERATE
EVC
c.1346C>A
chr4
5754544
T
C
intron_variant
MODIFIER
EVC
c.1099-19T>C
chr4
5750003
A
G
synonymous_variant
LOW
EVC
c.1068A>G
chr4
5747131
C
A
intron_variant
MODIFIER
EVC
c.939+63C>A
chr4
5747078
A
G
intron_variant
MODIFIER
EVC
c.939+10A>G
chr4
5747072
C
T
splice_region_variant&intron_variant
LOW
EVC
c.939+4C>T
chr4
5746916
C
T
intron_variant
MODIFIER
EVC
c.802-15C>T
chr4
5743512
T
C
missense_variant
MODERATE
EVC
c.772T>C